GOLGA7

Chr 8

golgin A7

Also known as: GCP16, GOLGA3AP1, GOLGA7A, HSPC041

NCBI Gene: 51125 ENSG00000147533 UniProt: Q7Z5G4 OMIM: 609453

Involved in Golgi to plasma membrane protein transport and post-translational protein modification. Acts upstream of or within Golgi to plasma membrane transport. Located in Golgi membrane and Golgi stack. Part of palmitoyltransferase complex. [provided by Alliance of Genome Resources, Jun 2026]

OMIM Research

OMIM ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.63

LOEUF

Multiple*

Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

0.63LOEUF

pLI 0.456

Z-score 2.33

OE 0.20 (0.08–0.63)

Tolerant

Typical tolerance to LoF variation

Missense Constraint?

1.45Z-score

OE missense 0.52 (0.40–0.68)

37 obs / 71.4 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.20 (0.08–0.63)

0≤0.351.4

Missense OE?0.52 (0.40–0.68)

0≤0.61.4

Synonymous OE?0.94

0≤1.21.6

LoF obs/exp: 2 / 9.9Missense obs/exp: 37 / 71.4Syn Z: 0.23

Background carrier burden — how many people carry a rare variant somewhere in GOLGA7?

gnomAD v4 · ~727k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 710

116 rare PASS variants

Rare truncating (LoF)

1 in 5,300

35 rare PASS variants

Rare synonymous (reference)

1 in 430

58 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for GOLGA7. A background rate for each class, not the frequency of any particular variant; thin-coverage exons undercount.

By genetic ancestry · 9 gnomAD groups · rare = under 0.1% in that group

Group	People	Missense	Truncating
European (non-Finnish)	~554k	1 in 910	1 in 4,000
South Asian	~43k	1 in 260	1 in 2,300
Remaining (unassigned)	~30k	1 in 1,400	≈ 1 in 15,000
European (Finnish)	~27k	1 in 910	≈ 1 in 8,800
Admixed American	~22k	1 in 740	none seen
African / African American	~21k	1 in 740	≈ 1 in 9,200
East Asian	~20k	1 in 2,400	≈ 1 in 9,500
Ashkenazi Jewish	~13k	≈ 1 in 4,300	none seen
Middle Eastern	~2,876	1 in 570	none seen

Each group is summed over the variants that are rare in that group. Grey ≈ figures rest on fewer than five expected carriers — too few to distinguish groups. Differences mostly reflect how many people were sampled and how much variation each ancestry carries, not disease risk.

Exome coverage (gnomAD): 0 of 4 coding exons well covered in gnomAD exomes; exon 4 poorly covered; exons 1, 2, 3 marginal. Genomes: all 4.? see exons ↓